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Amyotrophy in prion diseases
B B Worrall1, L P Rowland, S S Chin
1Department of Neurology, Columbia University College of Physicians & Surgeons, New York, NY, USA. bbw9r@virginia.edu
Abstract:
Amyotrophic lateral sclerosis was once thought to be caused by persistent viral infection, partly because some patients with transmissible Creutzfeldt-Jakob disease showed prominent amyotrophy. However, in the past 15 years there has been little interest in the amyotrophy in prion diseases, and the possible link to amyotrophic lateral sclerosis has been eschewed. We analyzed case reports of prion disease published after 1968 for evidence of amyotrophy. We defined amyotrophy as clinically evident fasciculation buttressed by electromyographic results in some cases. We sought evidence of motor neuron degeneration at autopsy. Prion disease was proved by transmissibility, immunohistochemistry demonstration of protease-resistant prion protein, or finding a mutation in the prion protein gene. Amyotrophy was noted in 27 patients: 13 with sporadic Creutzfeldt-Jakob disease, 2 with familial Creutzfeldt-Jakob disease, and 12 with Gerstmann-Sträussler-Scheinker disease. Of the 27, 23 showed clinical fasciculation and 10 had electromyographic evidence of denervation. The spinal cord was examined in 8 patients: 6 showed loss of motor neurons, 1 showed vacuolation of motor neurons, and 1 reported no abnormalities. Another 23 patients had typical histopathological characteristics but lacked molecular or biochemical proof of prion disease. The total number of patients with amyotrophy and proven prion disease that we identified was 50. This case review supports the belief that amyotrophy is occasionally a prominent feature of Creutzfeldt-Jakob disease and underscores the importance of documenting lower motor neuron function and the crucial role of examining the spinal cord at autopsy in cases of prion disease.
Insights
Amyotrophy, muscle wasting, is an occasional feature of prion diseases like Creutzfeldt-Jakob disease. This review highlights motor neuron degeneration in prion disease cases, emphasizing spinal cord examination at autopsy.
Area of Science:
- Neurology
- Pathology
- Prion Diseases
Background:
- Amyotrophic lateral sclerosis (ALS) was historically linked to viral infections, with some Creutzfeldt-Jakob disease (CJD) patients exhibiting amyotrophy.
- Interest in amyotrophy within prion diseases and its connection to ALS has waned over the past 15 years.
Purpose of the Study:
- To investigate the presence and significance of amyotrophy in prion diseases.
- To re-evaluate the potential link between prion diseases and amyotrophic lateral sclerosis.
Main Methods:
- Systematic review of case reports of prion disease published after 1968.
- Defined amyotrophy by clinical fasciculation and electromyographic findings.
- Examined autopsy reports for evidence of motor neuron degeneration in the spinal cord.
Main Results:
- Amyotrophy was identified in 27 patients with proven prion disease (13 sporadic CJD, 2 familial CJD, 12 Gerstmann-Sträussler-Scheinker disease).
- Clinical fasciculations were present in 23 patients, and 10 had electromyographic evidence of denervation.
- Spinal cord examination in 8 patients revealed motor neuron loss in 6 and vacuolation in 1, supporting neurodegeneration.
Conclusions:
- Amyotrophy is an occasional, prominent feature of Creutzfeldt-Jakob disease and other prion diseases.
- This finding reinforces the importance of assessing lower motor neuron function in prion disease patients.
- Thorough spinal cord examination during autopsy is crucial for diagnosing prion diseases with amyotrophy.